Thursday, August 21st, 2008

Researchers work to organize Phenome Project

International database would aid study of diseases by monitoring genetic variations

Scientists worked furiously in the five years it took to map the Human Genome. Fueled by technological advances and competitive debates, the study of human genes reached unparalleled heights.

But once the genome project was complete and the excitement settled down, many scientists began to question how they would apply the new information to the study of diseases.

In the eyes of some UCLA researchers, the completion of the Human Genome Project was a stepping stone in this process.

The next step was to catalog the human phenome – the physical expression of the genes on the body.

In order to do this, UCLA researchers Nelson Freimer and Chiara Sabatti have proposed the creation of an international database to catalog the human phenome, an endeavor they have dubbed “The Human Phenome Project.”

The main goal of the Phenome Project is to understand, prevent, and treat human diseases.

“All this effort has been expended to develop information for our genome, but there really has not been as much effort into the study of the diseases themselves,” said Freimer who is director of the Center for Neurobehavioral Genetics at the Neuropsychiatric Institute.

Now that scientists can search the genomes of millions of people, they can search for the genetic variations that cause diseases.

But instead of only looking at a person’s genetic makeup, the Phenome Project will also take a person’s environment into consideration.

For example, some people may be genetically predisposed to be obese. But studying the genetic conditions alone will not help treat a patient. Researchers would have to look at other external environmental factors like the person’s diet and eating habits.

The Phenome Project will probably affect complex diseases, like heart disease, cancer and diabetes that are also triggered by multiple genetic and environmental factors.

Several researchers have already played with the idea of looking at large populations to draw conclusions.

One company in Iceland has obtained access to the Icelandic health system and is looking at tens of thousands of individuals, comparing their genetic structures to diseases. There is even a massive Mouse Phenome Project already underway by the Jackson Laboratory in Maine.

But many of the thousands of independent investigators working on the human phenome have not communicated with one another. The Human Phenome Project would allow for a massive compilation of all these sources.

“I do agree with the concept,” said Jake Lusis, a professor in the genetics department who did some work with the Human Genome Project. “Looking at large numbers of people for various diseases and comparing that with their genetic makeup is likely to tell us a lot about common diseases.”

The biggest challenge now is organizing such a project – one that Freimer doesn’t envision to be completed for another 10 to 20 years.

One of the first steps is to standardize the way researchers measure phenotypes. This might be difficult because people in different countries and different fields have contrasting methods of collecting and organizing the data.

“You have to get people to agree, and it’s not easy to get people to agree,” Freimer said.

But cooperation will be key to getting the project underway.

Because the idea is so new, it does not have any major contributors yet – but researchers hope that they can get people from government agencies, foundations and the pharmaceutical industries involved.

Many people attribute the rapid completion of the Human Genome Project to the high level of competition between the private and public sectors, who found themselves in a race to finish the genome first.

With so many people working on different methods simultaneously, it made it easier for researchers to hone down on the best method to map the genome.

But Freimer said he doesn’t think this rivalry and competition would help facilitate the completion of the Human Phenome Project.

With a project as large as databasing the human phenome, standard methods of collecting and sharing data across all fields and countries must be set.

One logical alliance would be with pharmaceutical companies, who already have a lot of information to contribute to the Human Phenome Project. Many of these companies have already done extensive research looking into the causes and treatments of diseases.

“I think it would be a really great opportunity for them to show that they are able to work together with the public sector in a non-competitive way,” Freimer said.

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